Associated Papers
Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.
Lynn J et al.
Genes, 2022
Mechanism of Guanosine Triphosphate Hydrolysis by the Visual Proteins Arl3-RP2: Free Energy Reaction Profiles Computed with Ab Initio Type QM/MM Potentials.
Khrenova MG et al.
Molecules (basel, Switzerland), 2021
Molecular and phenotypic investigation of a New Zealand cohort of childhood-onset retinal dystrophy.
Hull S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.
Fujinami K et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability.
Zhang J et al.
Gene, 2019
X-linked Retinitis Pigmentosa in Japan: Clinical and Genetic Findings in Male Patients and Female Carriers.
Kurata K et al.
International Journal of Molecular Sciences, 2019
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
Liu F et al.
The Journal of Biological Chemistry, 2017
Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation.
Parmeggiani F et al.
European Journal of Ophthalmology, 2017
Zebrafish model for the genetic basis of X-linked retinitis pigmentosa.
Raghupathy RK et al.
Zebrafish, 2013
Potential cellular functions of N-ethylmaleimide sensitive factor in the photoreceptor.
Huang SP et al.
Advances in Experimental Medicine and Biology, 2012
Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration.
Shu X et al.
Investigative Ophthalmology & Visual Science, 2011
Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants.
Patil SB et al.
Plos One, 2011
Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells.
Holopainen JM et al.
Biochemistry, 2010
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
Jayasundera T et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3.
Veltel S et al.
Nature Structural & Molecular Biology, 2008
Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3.
Kühnel K et al.
Structure (london, England : 1993), 2006
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
Miano MG et al.
Human Mutation, 2001